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A nonsense PAX6 mutation in a family with congenital aniridia

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we repo...

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Detaylı Bibliyografya
Yayımlandı:Korean J Pediatr
Asıl Yazarlar: Han, Kyoung Hee, Lee, Hye Jin, Ha, Il-Soo, Kang, Hee Gyung, Cheong, Hae Il
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Korean Pediatric Society 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177687/
https://ncbi.nlm.nih.gov/pubmed/28018434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S1
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